Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Benjamin S. Jorge"'
Autor:
Tyra Lamar, Carlos G. Vanoye, Jeffrey Calhoun, Jennifer C. Wong, Stacey B.B. Dutton, Benjamin S. Jorge, Milen Velinov, Andrew Escayg, Jennifer A. Kearney
Publikováno v:
Neurobiology of Disease, Vol 102, Iss , Pp 38-48 (2017)
Mutations in voltage-gated sodium channels expressed highly in the brain (SCN1A, SCN2A, SCN3A, and SCN8A) are responsible for an increasing number of epilepsy syndromes. In particular, mutations in the SCN3A gene, encoding the pore-forming Nav1.3 α
Externí odkaz:
https://doaj.org/article/e56cb0d591444df7aececf7fc6acb26f
Autor:
Jennifer C. Wong, Milen Velinov, Tyra Lamar, Stacey B. B. Dutton, Carlos G. Vanoye, Andrew Escayg, Jennifer A. Kearney, Jeffrey D. Calhoun, Benjamin S. Jorge
Publikováno v:
Neurobiology of Disease, Vol 102, Iss, Pp 38-48 (2017)
Mutations in voltage-gated sodium channels expressed highly in the brain (SCN1A, SCN2A, SCN3A, and SCN8A) are responsible for an increasing number of epilepsy syndromes. In particular, mutations in the SCN3A gene, encoding the pore-forming Nav1.3 α
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::954b97b9101114e826827b2f50f209ec
https://doi.org/10.1016/j.nbd.2017.02.006
https://doi.org/10.1016/j.nbd.2017.02.006
Autor:
Robert L. Bjork, Jennifer A. Kearney, Alfred L. George, Siddharth Gupta, Julie S. Cohen, Jennifer Friedman, Carlos G. Vanoye, Sakkubai Naidu, Benjamin S. Jorge, Kevin R. Bersell, Cinnamon S. Bloss, Ali Torkamani
Publikováno v:
Annals of Neurology. 76:529-540
Objective Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide variants in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism. Met
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6499ebe5739672ad0432edf997e81386
https://doi.org/10.1002/ana.24263
https://doi.org/10.1002/ana.24263
Autor:
Ali, Torkamani, Kevin, Bersell, Benjamin S, Jorge, Robert L, Bjork, Jennifer R, Friedman, Cinnamon S, Bloss, Julie, Cohen, Siddharth, Gupta, Sakkubai, Naidu, Carlos G, Vanoye, Alfred L, George, Jennifer A, Kearney
Publikováno v:
Annals of neurology. 76(4)
Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide variants in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism.We searched fo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c3ab1715769bc74d24b161a3683302d1
https://pubmed.ncbi.nlm.nih.gov/25164438
https://pubmed.ncbi.nlm.nih.gov/25164438
Publikováno v:
Biophysical Journal. 106(2)
A large scale sequencing endeavor (Epi4K Consortium, Nature 501:217-221, 2013) recently reported discovery of several de novo mutations in genes encoding ion channels, neurotransmitter receptors and other proteins that may explain severe, early onset
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70766c98c677aa67ac77a8e13426319b
Autor:
Jennifer A. Kearney, Benjamin S. Jorge
Publikováno v:
eLS.
Genetic modifiers make a significant contribution to the pathophysiology of neurological disease. A common feature of heritable neurological disease is phenotype variation among patients with the same mutation. Some of the observed phenotype variatio
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f88ac83d641f0850575010cbdce7282
https://doi.org/10.1002/9780470015902.a0023856
https://doi.org/10.1002/9780470015902.a0023856
Autor:
Courtney M. Campbell, Christina A. Gurnett, Elizabeth D. Rutter, Carlos G. Vanoye, Alfred L. George, Jennifer A. Kearney, Benjamin S. Jorge, Alison R. Miller
Mutations in voltage-gated ion channels are responsible for several types of epilepsy. Genetic epilepsies often exhibit variable severity in individuals with the same mutation, which may be due to variation in genetic modifiers. The Scn2a Q54 transge
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ceb1866705857202d5a5dae3acf2f7b
https://europepmc.org/articles/PMC3069171/
https://europepmc.org/articles/PMC3069171/
